Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

Robert W. Davies; Ania M. Fiksinski; Elemi J. Breetvelt; Nigel M. Williams; Stephen R. Hooper; Thomas Monfeuga; Anne S. Bassett; Michael J. Owen; Raquel E. Gur; Bernice E. Morrow; Donna M. McDonald-McGinn; Ann Swillen; Eva W. C. Chow; Marianne van den Bree; Beverly S. Emanuel; Joris R. Vermeesch; Therese van Amelsvoort; Celso Arango; Marco Armando; Linda E. Campbell

doi:10.1038/s41591-020-1103-1

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

Journal

Nature Medicine

ISSN

1078-8956

1546-170X

Date Issued

2020

Author(s)

Robert W. Davies

Ania M. Fiksinski

Elemi J. Breetvelt

Nigel M. Williams

Stephen R. Hooper

Thomas Monfeuga

Anne S. Bassett

Michael J. Owen

Raquel E. Gur

Bernice E. Morrow

Donna M. McDonald-McGinn

Ann Swillen

Eva W. C. Chow

Marianne van den Bree

Beverly S. Emanuel

Joris R. Vermeesch

Therese van Amelsvoort

Celso Arango

Marco Armando

Linda E. Campbell

Joseph F. Cubells

Stephan Eliez

Sixto Garcia-Minaur

Doron Gothelf

Wendy R. Kates

Kieran C. Murphy

Clodagh M. Murphy

Declan G. Murphy

Nicole Philip

REPETTO LISBOA, MARIA GABRIELA

Facultad de Medicina Clínica Alemana Universidad del Desarrollo

Vandana Shashi

Tony J. Simon

Damiàn Heine Suñer

Stefano Vicari

Stephen W. Scherer

Carrie E. Bearden

Jacob A. S. Vorstman

Type

Resource Types::text::journal::journal article

Scopus ID

2-s2.0-85095693421

WoS ID

WOS:000588007500002

DOI

10.1038/s41591-020-1103-1

URL

https://investigadores.udd.cl/handle/123456789/5145

URL Institutional Repository

http://hdl.handle.net/11447/4226

Cite this document

International 22q11.2 Brain and Behavior Consortium, Davies, R. W., Fiksinski, A. M., Breetvelt, E. J., Williams, N. M., Hooper, S. R., Monfeuga, T., Bassett, A. S., Owen, M. J., Gur, R. E., Morrow, B. E., McDonald-McGinn, D. M., Swillen, A., Chow, E. W. C., Van Den Bree, M., Emanuel, B. S., Vermeesch, J. R., Van Amelsvoort, T., Arango, C., … Vorstman, J. A. S. (2020). Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome. Nature Medicine, 26(12), 1912-1918. https://doi.org/10.1038/s41591-020-1103-1

Project(s)

Prodromal manifestations of Parkinson´s disease in a high-risk population: 22q11.2 microdeletion syndrome

Development of novel imaging techniques to study the brain in severe mental health disorders

Dataset(s)

Dataset - Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

Subjects

adolescent

;

adult

;

aged

;

child

;

child, preschool

;

cognitive dysfunction

;

cohort studies

;

digeorge syndrome

;

female

;

genetic variation

;

humans

;

intellectual disability

;

male

;

middle aged

;

multifactorial inheritance

;

phenotype

;

risk factors

;

schizophrenia

;

young adult

;

adolescent

;

adult

;

article

;

cognitive defect

;

cohort analysis

;

controlled study

;

digeorge syndrome

;

female

;

gene expression

;

genetic association

;

genetic risk

;

genetic risk score

;

genetic susceptibility

;

genetic variability

;

genetic variation

;

human

;

intellectual impairment

;

intelligence

;

intelligence quotient

;

major clinical study

;

male

;

predictive value

;

priority journal

;

psychosis

;

schizophrenia

;

schizophrenia spectrum disorder

;

symptomatology

;

aged

;

child

;

cognitive defect

;

digeorge syndrome

;

genetic variation

;

genetics

;

intellectual impairment

;

middle aged

;

multifactorial inheritance

;

pathophysiology

;

phenotype

;

preschool child

;

risk factor

;

schizophrenia

;

young adult